18 results on '"Antinolo, Guillermo"'
Search Results
2. Assessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus
3. Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review
4. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
5. EYS Is a Major Gene for Rod-cone Dystrophies in France
6. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
7. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
8. High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain
9. Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W
10. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation
11. Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male
12. One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease
13. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
14. Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy
15. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
16. Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2
17. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
18. The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer.
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